A curious case of facial swelling in the night-time

• Published in: BMJ (Online) Vol. 350; no. apr07 10; p. h1487
• Main Authors: Quinn, Joanna, Todd, Sophie, Agrawal, Samir, Tsitsikas, Dimitris A
• Format: Journal Article
• Language: English
• Published: England British Medical Journal Publishing Group 07.04.2015; BMJ Publishing Group LTD
• Subjects: Angioedemas, Hereditary - diagnosis; CASE REVIEW; Complement C1 Inactivator Proteins - analysis; Disease; Enzymes; Face; Family medical history; Female; Humans; Middle Aged; Mortality; Permeability; Time Factors
• ISSN: 0959-8138; 1756-1833; 1756-1833
• DOI: 10.1136/bmj.h1487

The identification of low complement values can help pinpoint certain diagnoses, including acquired or inherited forms of complement deficiency, some types of haemolytic anaemia, and recurrent infections. 1 2 C1 esterase inhibitor is a protease inhibitor that inhibits spontaneous activation of complement. Answer The association between acquired angio-oedema and lymphoproliferative disorders (particularly B cell ones) is well recognised, and the patient's known B cell disorder may have been the underlying cause.\n 41 Discussion Some patients with laryngeal oedema are resistant to plasma derived C1 esterase inhibitor concentrate and this poses a very serious problem in a potentially life threatening situation. 21 Treatment of the underlying condition, such as a lymphoproliferative disease, often-but not always-increases C1 esterase inhibitor concentrations, thereby improving symptoms. 24 27 29 42 In terms of prophylaxis, antifibrinolytic agents (such as tranexamic acid) seem better than attenuated androgens (such as danazol-a 17 α-alkylated androgen), which had previously been shown to be effective in hereditary angio-oedema. 21 43 The use of antifibrinolytics increases the risk of thromboembolism and oral anticoagulants are sometimes given concomitantly. 21 Recent case reports have highlighted the efficacy of rituximab (an anti-CD20 monoclonal antibody) in the treatment of recurrent angio-oedema in acquired C1 esterase inhibitor deficiency. 44 45 46 Three patients treated with rituximab for one month had a decreased incidence of angio-oedema attacks, increased concentrations of C1 esterase inhibitor, and normalised C4 values, with no adverse effects.